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Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.
Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M. Johnson JL, et al. Among authors: bonnen pe. Neuron. 2019 Nov 20;104(4):665-679.e8. doi: 10.1016/j.neuron.2019.08.027. Epub 2019 Oct 1. Neuron. 2019. PMID: 31585809 Free PMC article.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. Wiszniewski W, et al. Among authors: bonnen pe. Am J Hum Genet. 2013 Aug 8;93(2):197-210. doi: 10.1016/j.ajhg.2013.05.027. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810381 Free PMC article.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. Thompson K, et al. Among authors: bonnen pe. Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693233 Free PMC article.
57 results